A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7966



Internal ID15189212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:202787512..202820558hg38UCSC Ensembl
Outerchr1:202756640..202789686hg19UCSC Ensembl
Outerchr1:201023263..201056309hg18UCSC Ensembl
Outerchr1:199488297..199521343hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg386376
hg196376
hg186376
hg176376
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4110
Supporting Variants
SamplesNA12156
Known GenesKDM5B, PCAT6
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv7966
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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