A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv887



Internal ID15545113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:77345298..77378733hg38UCSC Ensembl
OuterchrX:76565761..76599196hg19UCSC Ensembl
OuterchrX:76482135..76515870hg18UCSC Ensembl
OuterchrX:76348431..76382166hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg387262
hg197262
hg187262
hg177262
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6967
Supporting Variants
SamplesNA19240
Known Genes
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)nssv887
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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