A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699336



Internal ID15089302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:14490170..14497850hg38UCSC Ensembl
Innerchr21:15862491..15870171hg19UCSC Ensembl
Innerchr21:14784362..14792042hg18UCSC Ensembl
Innerchr21:14784362..14792042hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg387681
hg197681
hg187681
hg177681
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523557
Supporting Variants
Samples
Known GenesSAMSN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699336
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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