A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694335



Internal ID15430987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228963742..228976886hg38UCSC Ensembl
Innerchr2:229828458..229841602hg19UCSC Ensembl
Innerchr2:229536702..229549846hg18UCSC Ensembl
Innerchr2:229653963..229667107hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3813145
hg1913145
hg1813145
hg1713145
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519567
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694335
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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