U.S. flag

An official website of the United States government

nstd41 (Iafrate et al. 2004)

Organism:
Human
Study Type:
Control Set
Submitter:
Charles Lee
Description:
We identified 255 loci across the human genome that contain genomic imbalances among unrelated individuals. Data was originally reported on human genome assembly NCBI34; it is reported here on the current human genome assembly, GRCh37. See Variant Summary counts for nstd41 in dbVar Variant Summary.
Publication(s):
Iafrate et al. 2004

Detailed Information: Download 255 Variant Regions, Download 683 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_000001.11Chr11665RemappedNC_000001.11
NC_000002.12Chr21435RemappedNC_000002.12
NC_000003.12Chr3918RemappedNC_000003.12
NC_000004.12Chr41320RemappedNC_000004.12
NC_000005.10Chr51029RemappedNC_000005.10
NC_000006.12Chr62265RemappedNC_000006.12
NC_000007.14Chr71112RemappedNC_000007.14
NC_000008.11Chr81128RemappedNC_000008.11
NC_000009.12Chr9611RemappedNC_000009.12
NC_000010.11Chr1077RemappedNC_000010.11
NC_000011.10Chr111726RemappedNC_000011.10
NC_000012.12Chr1268RemappedNC_000012.12
NC_000013.11Chr13741RemappedNC_000013.11
NC_000014.9Chr14739RemappedNC_000014.9
NC_000015.10Chr15915RemappedNC_000015.10
NC_000016.10Chr16616RemappedNC_000016.10
NC_000017.11Chr171016RemappedNC_000017.11
NC_000018.10Chr1868RemappedNC_000018.10
NC_000019.10Chr19223RemappedNC_000019.10
NC_000020.11Chr2088RemappedNC_000020.11
NC_000021.9Chr2155RemappedNC_000021.9
NC_000022.11Chr2247RemappedNC_000022.11
NC_000023.11ChrX1690RemappedNC_000023.11
NW_003315915.1Chr4|NW_003315915.112RemappedNW_003315915.1
NT_187680.1Chr8|NT_187680.111RemappedNT_187680.1
NT_187654.1Chr8|NT_187654.111RemappedNT_187654.1
NT_187606.1Chr15|NT_187606.112RemappedNT_187606.1
NT_187663.1Chr17|NT_187663.115RemappedNT_187663.1
NT_167251.2Chr17|NT_167251.215RemappedNT_167251.2
NW_003315953.2Chr17|NW_003315953.211RemappedNW_003315953.2
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.10Chr11665SubmittedNC_000001.10
NC_000002.11Chr21435SubmittedNC_000002.11
NC_000003.11Chr3918SubmittedNC_000003.11
NC_000004.11Chr41320SubmittedNC_000004.11
NC_000005.9Chr51029SubmittedNC_000005.9
NC_000006.11Chr62265SubmittedNC_000006.11
NC_000007.13Chr71112SubmittedNC_000007.13
NC_000008.10Chr81128SubmittedNC_000008.10
NC_000009.11Chr9611SubmittedNC_000009.11
NC_000010.10Chr1077SubmittedNC_000010.10
NC_000011.9Chr111726SubmittedNC_000011.9
NC_000012.11Chr1268SubmittedNC_000012.11
NC_000013.10Chr13741SubmittedNC_000013.10
NC_000014.8Chr14739SubmittedNC_000014.8
NC_000015.9Chr15915SubmittedNC_000015.9
NC_000016.9Chr16723SubmittedNC_000016.9
NC_000017.10Chr171016SubmittedNC_000017.10
NC_000018.9Chr1868SubmittedNC_000018.9
NC_000019.9Chr19223SubmittedNC_000019.9
NC_000020.10Chr2088SubmittedNC_000020.10
NC_000021.8Chr2155SubmittedNC_000021.8
NC_000022.10Chr2247SubmittedNC_000022.10
NC_000023.10ChrX1690SubmittedNC_000023.10

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.10Chr11679000654817000
NC_000002.11Chr21411300035278000
NC_000003.11Chr398100018171000
NC_000004.11Chr4139300120135002
NC_000005.9Chr51010000029290000
NC_000006.11Chr622813100653426500
NC_000007.13Chr711740001275000
NC_000008.10Chr8118200128918001
NC_000009.11Chr965100011101000
NC_000010.10Chr10770000770000
NC_000011.9Chr111715200026233000
NC_000012.11Chr12660000880000
NC_000013.10Chr1377000041410000
NC_000014.8Chr14734000392613000
NC_000015.9Chr1598000115130002
NC_000016.9Chr167222102352970
NC_000017.10Chr1710710021691006
NC_000018.9Chr18633000844000
NC_000019.9Chr1921100023212000
NC_000020.10Chr20825100825100
NC_000021.8Chr21541000541000
NC_000022.10Chr22413000716000
NC_000023.10ChrX16412000902070000

Samplesets

Number of Samplesets: 2

Sampleset ID:
1
Name:
Phenotypically normal individuals
Description:
Twenty samples were obtained from normal individuals whose DNA are stored at the Coriell Cell Repository (Camden, New Jersey) with the following ethnic representation: 10 European/Caucasian, 4 Native American, 2 Chinese, 2 Indo-Pakistani, and 2 Sub-Saharan African. Twelve samples were from fixed cell pellets of cytogenetically normal individuals from the Brigham and Women's Cytogenetics Laboratory and 7 samples from cytogenetically normal individuals were obtained from the Hospital for Sick Children.
Size:
39 (sample data not available)
Organisms:
Homo sapiens
Sampleset Phenotype(s):
None reported
Sampleset ID:
2
Name:
Patients (Cytogenetically abnormal)
Description:
Seven samples from cytogenetically abnormal individuals were obtained from the Brigham and Women's Cytogenetics Laboratory and 9 DNA samples, from individuals with defined karyotypic abnormalities, were obtained from whole blood samples from the Hospital for Sick Children.
Size:
16 (sample data not available)
Organisms:
Homo sapiens
Sampleset Phenotype(s):
Chromosome Aberrations

Experimental Details

Experiment IDTypeMethodAnalysisPlatformsNumber of Variant Calls
1DiscoveryBAC aCGHProbe signal intensitySpectral Genomics 2600 BAC array683
2ValidationFISHProbe signal intensity99

Validations

Experiment IDMethodAnalysisNumber of Variant Calls Validated
2FISHProbe signal intensity99
Support Center