A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520607



Internal ID15447900
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv673067, nssv694125, nssv686167
Samples
Known GenesH1FX, H1FX-AS1, HMCES
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520607
Frequency
Sample Size2026
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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