A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv687497



Internal ID15077463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238127212..238150843hg38UCSC Ensembl
Innerchr2:239035853..239059484hg19UCSC Ensembl
Innerchr2:238700592..238724223hg18UCSC Ensembl
Innerchr2:238817853..238841484hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3823632
hg1923632
hg1823632
hg1723632
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517412
Supporting Variants
Samples
Known GenesESPNL, KLHL30
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv687497
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