A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704323



Internal ID15094289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216296765..216302200hg38UCSC Ensembl
Innerchr1:216470107..216475542hg19UCSC Ensembl
Innerchr1:214536730..214542165hg18UCSC Ensembl
Innerchr1:212858502..212863937hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385436
hg195436
hg185436
hg175436
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527827
Supporting Variants
Samples
Known GenesUSH2A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704323
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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