A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6305



Internal ID15190873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3630643..3642184hg38UCSC Ensembl
OuterchrX:3548684..3560225hg19UCSC Ensembl
OuterchrX:3558684..3570225hg18UCSC Ensembl
OuterchrX:3542045..3553586hg17UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3811831
hg1911831
hg1811831
hg1711831
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6780
Supporting Variants
SamplesNA12156
Known GenesPRKX
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)nssv6305
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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