A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv653597



Internal ID15043563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21562847..21563893hg38UCSC Ensembl
Innerchr1:21889340..21890386hg19UCSC Ensembl
Innerchr1:21761927..21762973hg18UCSC Ensembl
Innerchr1:21634646..21635692hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381047
hg191047
hg181047
hg171047
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517096
Supporting Variants
Samples
Known GenesALPL
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv653597
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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