A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6520



Internal ID15204752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:23077876..23096553hg38UCSC Ensembl
Outerchr1:23404369..23423046hg19UCSC Ensembl
Outerchr1:23276956..23295633hg18UCSC Ensembl
Outerchr1:23149675..23168352hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg388157
hg198157
hg188157
hg178157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5396
SamplesNA19129
Known GenesKDM1A, LUZP1
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)nsv6520
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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