A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6940



Internal ID15551900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:68439812..68473595hg38UCSC Ensembl
OuterchrX:67659654..67693437hg19UCSC Ensembl
OuterchrX:67576379..67610162hg18UCSC Ensembl
OuterchrX:67442675..67476458hg17UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg385644
hg195644
hg185644
hg175644
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8734
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)nsv6940
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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