A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8731



Internal ID15188447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:66003429..66036427hg38UCSC Ensembl
OuterchrX:65223271..65256269hg19UCSC Ensembl
OuterchrX:65139996..65172994hg18UCSC Ensembl
OuterchrX:65006292..65039290hg17UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg386430
hg196430
hg186430
hg176430
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6933
Supporting Variants
SamplesNA12156
Known GenesMIR223, VSIG4
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)nssv8731
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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