A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695226



Internal ID15085192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21537198..21540336hg38UCSC Ensembl
Innerchr1:21863691..21866829hg19UCSC Ensembl
Innerchr1:21736278..21739416hg18UCSC Ensembl
Innerchr1:21608997..21612135hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg383139
hg193139
hg183139
hg173139
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)nssv695226
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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