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dbVar

Database of genomic structural variation

nstd181 (Alcoverro et al. 2020)

Organism:: Human
Study Type:: Case-Set
Submitter:: Oscar Alcoverro-Fortuny
Description:: This is a current report of a patient diagnosed with Avoidant/Restrictive Food Intake Disorder (ARFID) and neurodevelopmental delay, in whom a deletion affecting the CAMKMT gene on chromosome 2p21 was detected. See Variant Summary counts for nstd181 in dbVar Variant Summary.

Links

Source: NCBI

Detailed Information: Download 1 Variant Region, Download 2 Variant Calls, Download Both, FTP

Variant Summary
Samplesets
Experimental Details
Validations

Variant Summary

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

Variant Summary for:

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000002.12	Chr2	1	2	Remapped	NC_000002.12

Remapping summary:

			Variant Region remap status						Variant Call remap status
Sequence ID	Chr	Variant Regions on source	Perfect	Good	Pass	Fail	Mult	Variant Calls on source	Perfect	Good	Pass	Fail	Mult
NC_000002.11	Chr2	1	1	0	0	0	0	2	2	0	0	0	0

Samplesets

Number of Samplesets: 1

Size:: 2
Organisms:: Homo sapiens
Sampleset Phenotype(s):: See phenotypes on samples

Experimental Details

Experiment ID	Type	Method	Analysis	Number of Variant Calls
1	Discovery	Oligo aCGH	Probe signal intensity	1
2	Discovery	Oligo aCGH	Probe signal intensity	1

Validations

No validation data were submitted for this study.

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