A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6972



Internal ID15205249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:80370133..80399302hg38UCSC Ensembl
OuterchrX:79625632..79654801hg19UCSC Ensembl
OuterchrX:79512288..79541457hg18UCSC Ensembl
OuterchrX:79431777..79460946hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3810070
hg1910070
hg1810070
hg1710070
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5234
SamplesNA19129
Known GenesFAM46D
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)nsv6972
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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