A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6918



Internal ID15551875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:56761806..56789975hg38UCSC Ensembl
OuterchrX:56788239..56816408hg19UCSC Ensembl
OuterchrX:56804964..56833133hg18UCSC Ensembl
OuterchrX:56671260..56699429hg17UCSC Ensembl
CytobandXp11.1
Allele length
AssemblyAllele length
hg3814068
hg1914068
hg1814068
hg1714068
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5229, nssv11217, nssv9485, nssv6337, nssv3792, nssv1840, nssv876
SamplesNA12156, NA12878, NA15510, NA18555, NA18517, NA19240, NA19129
Known GenesLOC550643
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)nsv6918
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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