A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6974



Internal ID15551937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:81370883..81415772hg38UCSC Ensembl
OuterchrX:80626382..80671271hg19UCSC Ensembl
OuterchrX:80513038..80557927hg18UCSC Ensembl
OuterchrX:80432527..80477416hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3844890
hg1944890
hg1844890
hg1744890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8745
SamplesNA12156
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)nsv6974
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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