A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700981



Internal ID15437633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:215706757..215736977hg38UCSC Ensembl
Innerchr2:216571480..216601700hg19UCSC Ensembl
Innerchr2:216279725..216309945hg18UCSC Ensembl
Innerchr2:216396986..216427206hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3830221
hg1930221
hg1830221
hg1730221
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524960
Supporting Variants
Samples
Known GenesLINC00607
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700981
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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