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nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)

Organism:
Human
Study Type:
Curated Collection
Submitter:
ClinGen Structural Variation Working Group 
Submitter URL:
http://www.clinicalgenome.org
Submitter version:
August 2019 (final version)
Description:
Genes/genomic regions with sufficient evidence supporting (pathogenic) or refuting (benign) dosage sensitivity as a mechanism for disease. Evidence is evaluated on a continual basis by the ClinGen Structural Variation Working Group as described in Riggs et al. 2012. See Variant Summary counts for nstd45 in dbVar Variant Summary.
Curatorial Comment:
PLEASE NOTE: This study is no longer being maintained at dbVar. No new variant accessions will be assigned after the August 2019 submitter version. ClinGen's Dosage Senstivity Map curation efforts continue in full force at https://clinicalgenome.org/curation-activities/dosage-sensitivity/.
Project:
PRJNA42509
Publication(s):
Riggs et al. 2011
Last updated:
2019-08-22

Detailed Information: Download 364 Variant Regions, Download 397 Variant Calls, Download Both, FTP

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Submitted: GRCh37 (hg19)

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.11Chr12021RemappedNC_000001.11
NC_000002.12Chr22425RemappedNC_000002.12
NC_000003.12Chr31212RemappedNC_000003.12
NC_000004.12Chr466RemappedNC_000004.12
NC_000005.10Chr51516RemappedNC_000005.10
NC_000006.12Chr6910RemappedNC_000006.12
NC_000007.14Chr71416RemappedNC_000007.14
NC_000008.11Chr8911RemappedNC_000008.11
NC_000009.12Chr999RemappedNC_000009.12
NC_000010.11Chr101313RemappedNC_000010.11
NC_000011.10Chr111313RemappedNC_000011.10
NC_000012.12Chr121313RemappedNC_000012.12
NC_000013.11Chr1366RemappedNC_000013.11
NC_000014.9Chr14810RemappedNC_000014.9
NC_000015.10Chr151722RemappedNC_000015.10
NC_000016.10Chr161417RemappedNC_000016.10
NC_000017.11Chr172126RemappedNC_000017.11
NC_000018.10Chr1866RemappedNC_000018.10
NC_000019.10Chr1978RemappedNC_000019.10
NC_000020.11Chr2078RemappedNC_000020.11
NC_000021.9Chr2144RemappedNC_000021.9
NC_000022.11Chr221114RemappedNC_000022.11
NC_000023.11ChrX106112RemappedNC_000023.11
NC_000024.10ChrY11RemappedNC_000024.10
NW_003315905.1Chr1|NW_003315905.111RemappedNW_003315905.1
NT_187523.1Chr2|NT_187523.112RemappedNT_187523.1
NT_187647.1Chr2|NT_187647.112RemappedNT_187647.1
NW_018654717.1Chr8|NW_018654717.123RemappedNW_018654717.1
NW_009646202.1Chr10|NW_009646202.111RemappedNW_009646202.1
NW_013171807.1Chr10|NW_013171807.111RemappedNW_013171807.1
NT_187585.1Chr11|NT_187585.111RemappedNT_187585.1
NT_187600.1Chr14|NT_187600.112RemappedNT_187600.1
NT_187660.1Chr15|NT_187660.123RemappedNT_187660.1
NT_187603.1Chr15|NT_187603.111RemappedNT_187603.1
NW_011332701.1Chr15|NW_011332701.136RemappedNW_011332701.1
NT_187607.1Chr16|NT_187607.111RemappedNT_187607.1
NT_187663.1Chr17|NT_187663.122RemappedNT_187663.1
NT_187614.1Chr17|NT_187614.123RemappedNT_187614.1
NT_187625.1Chr20|NT_187625.111RemappedNT_187625.1
NW_015148969.1Chr22|NW_015148969.111RemappedNW_015148969.1
NT_187633.1Chr22|NT_187633.111RemappedNT_187633.1
NT_187635.1ChrX|NT_187635.111RemappedNT_187635.1
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.10Chr12123SubmittedNC_000001.10
NC_000002.11Chr22425SubmittedNC_000002.11
NC_000003.11Chr31212SubmittedNC_000003.11
NC_000004.11Chr466SubmittedNC_000004.11
NC_000005.9Chr51516SubmittedNC_000005.9
NC_000006.11Chr6910SubmittedNC_000006.11
NC_000007.13Chr71314SubmittedNC_000007.13
NC_000008.10Chr8911SubmittedNC_000008.10
NC_000009.11Chr999SubmittedNC_000009.11
NC_000010.10Chr101313SubmittedNC_000010.10
NC_000011.9Chr111313SubmittedNC_000011.9
NC_000012.11Chr121313SubmittedNC_000012.11
NC_000013.10Chr1366SubmittedNC_000013.10
NC_000014.8Chr14810SubmittedNC_000014.8
NC_000015.9Chr151722SubmittedNC_000015.9
NC_000016.9Chr161315SubmittedNC_000016.9
NC_000017.10Chr172126SubmittedNC_000017.10
NC_000018.9Chr1866SubmittedNC_000018.9
NC_000019.9Chr1978SubmittedNC_000019.9
NC_000020.10Chr2078SubmittedNC_000020.10
NC_000021.8Chr2144SubmittedNC_000021.8
NC_000022.10Chr221114SubmittedNC_000022.10
NC_000023.10ChrX106112SubmittedNC_000023.10
NC_000024.9ChrY11SubmittedNC_000024.9

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.10Chr12117200223173003
NC_000002.11Chr22422100125221002
NC_000003.11Chr31212000012120000
NC_000004.11Chr4651000651000
NC_000005.9Chr51514100016151000
NC_000006.11Chr699000010100000
NC_000007.13Chr71311110014112100
NC_000008.10Chr89700021180003
NC_000009.11Chr9990000990000
NC_000010.10Chr101311000213110002
NC_000011.9Chr111312000113120001
NC_000012.11Chr121313000013130000
NC_000013.10Chr13660000660000
NC_000014.8Chr148610011062002
NC_000015.9Chr151712010422140107
NC_000016.9Chr161312000115140001
NC_000017.10Chr172117000426210005
NC_000018.9Chr18651000651000
NC_000019.9Chr19752000862000
NC_000020.10Chr20751001861001
NC_000021.8Chr21431000431000
NC_000022.10Chr2211531021455202
NC_000023.10ChrX10680241011128129101
NC_000024.9ChrY110000110000

Samplesets

Number of Samplesets: 1

Name:
Curated Dosage Sensitive Genes and Genomic Regions
Description:
Annotated pathogenic and benign dosage sensitive genes and genomic regions
Size:
0 (sample data not available)
Organisms:
Homo sapiens
Sampleset Phenotype(s):
See descriptions on individual entries for information on associated phenotype(s).

Experimental Details

Experiment IDTypeMethodAnalysisNumber of Variant Calls
1DiscoveryCuratedCurated397

Validations

No validation data were submitted for this study.

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