A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv679622



Internal ID15069588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130845653..130853759hg38UCSC Ensembl
Innerchr2:131603226..131611332hg19UCSC Ensembl
Innerchr2:131319696..131327802hg18UCSC Ensembl
Innerchr2:131436958..131445064hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg388107
hg198107
hg188107
hg178107
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517274
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv679622
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer