A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6782



Internal ID15551726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:5035179..5065049hg38UCSC Ensembl
OuterchrX:4953220..4983090hg19UCSC Ensembl
OuterchrX:4963220..4993090hg18UCSC Ensembl
OuterchrX:4812956..4842826hg17UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg389549
hg199549
hg189549
hg179549
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv848, nssv10694, nssv1820, nssv5197, nssv6306, nssv3763
SamplesNA12156, NA12878, NA18956, NA18555, NA19240, 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)nsv6782
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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