A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694390



Internal ID15084356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:23245342..23253189hg38UCSC Ensembl
Innerchr7:23284961..23292808hg19UCSC Ensembl
Innerchr7:23251486..23259333hg18UCSC Ensembl
Innerchr7:23058201..23066048hg17UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg387848
hg197848
hg187848
hg177848
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520600
Supporting Variants
Samples
Known GenesGPNMB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694390
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