A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521345



Internal ID8415620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71345325..71458399hg38UCSC Ensembl
Innerchr2:71572455..71685529hg19UCSC Ensembl
Innerchr2:71425963..71539037hg18UCSC Ensembl
Innerchr2:71484110..71597184hg17UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38113075
hg19113075
hg18113075
hg17113075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697954
Samples
Known GenesDYSF, ZNF638
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521345
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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