A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522631



Internal ID15449924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52609172..52614269hg38UCSC Ensembl
Innerchr12:53002956..53008053hg19UCSC Ensembl
Innerchr12:51289223..51294320hg18UCSC Ensembl
Innerchr12:51289223..51294320hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg385098
hg195098
hg185098
hg175098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv706029
Samples
Known GenesKRT73
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522631
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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