A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516179



Internal ID15443472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240429634..240468708hg38UCSC Ensembl
Innerchr2:241369051..241408125hg19UCSC Ensembl
Innerchr2:241017724..241056798hg18UCSC Ensembl
Innerchr2:241089041..241128115hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3839075
hg1939075
hg1839075
hg1739075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv672594, nssv668730, nssv661540, nssv672766, nssv670007, nssv667288, nssv666650, nssv657498, nssv656890, nssv700694
Samples
Known GenesGPC1, MIR149, PP14571
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516179
Frequency
Sample Size2026
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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