A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7079



Internal ID15552052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:126648699..126680858hg38UCSC Ensembl
OuterchrX:125782682..125814841hg19UCSC Ensembl
OuterchrX:125610363..125642522hg18UCSC Ensembl
OuterchrX:125508217..125540376hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg387278
hg197278
hg187278
hg177278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6371
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)nsv7079
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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