A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700794



Internal ID15090760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:60860694..60908994hg38UCSC Ensembl
Innerchr2:61087829..61136129hg19UCSC Ensembl
Innerchr2:60941333..60989633hg18UCSC Ensembl
Innerchr2:60999480..61047780hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3848301
hg1948301
hg1848301
hg1748301
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524802
Supporting Variants
Samples
Known GenesFLJ16341, REL
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700794
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