A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694125



Internal ID15430777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129293901..129317126hg38UCSC Ensembl
Innerchr3:129012744..129035969hg19UCSC Ensembl
Innerchr3:130495434..130518659hg18UCSC Ensembl
Innerchr3:130495442..130518667hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3823226
hg1923226
hg1823226
hg1723226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520607
Supporting Variants
Samples
Known GenesH1FX, H1FX-AS1, HMCES
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694125
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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