A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv818917



Internal ID6108819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52691103..52782141hg19UCSC Ensembl
Innerchr12:50977370..51068408hg18UCSC Ensembl
Innerchr12:50977370..51068408hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1418397
SamplesNA12239
Known GenesKRT83, KRT84, KRT85, KRT86
Method
AnalysisIdentical to variant call (no regions submitted)
PlatformIllumina HumanHap550 Bead Chip
Comments
ReferenceWang_et_al_2007
Pubmed ID17921354
Accession Number(s)nsv818917
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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