A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7005



Internal ID15551971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:98989630..99016761hg38UCSC Ensembl
OuterchrX:98244628..98271759hg19UCSC Ensembl
OuterchrX:98131284..98158415hg18UCSC Ensembl
OuterchrX:98050773..98077904hg17UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg386554
hg196554
hg186554
hg176554
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv894, nssv8752
SamplesNA12156, NA19240
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)nsv7005
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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