A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696988



Internal ID15433640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:104141285..104149893hg38UCSC Ensembl
Innerchr2:104757743..104766351hg19UCSC Ensembl
Innerchr2:104124175..104132783hg18UCSC Ensembl
Innerchr2:104216261..104224869hg17UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg388609
hg198609
hg188609
hg178609
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519678
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696988
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