A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6975



Internal ID15551938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:81824261..81865255hg38UCSC Ensembl
OuterchrX:81079760..81120754hg19UCSC Ensembl
OuterchrX:80966416..81007410hg18UCSC Ensembl
OuterchrX:80885905..80926899hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3840995
hg1940995
hg1840995
hg1740995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1846, nssv3804, nssv5235
SamplesNA12878, NA18555, NA19129
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)nsv6975
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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