A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7083



Internal ID15552057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:128076960..128109262hg38UCSC Ensembl
OuterchrX:127210939..127243241hg19UCSC Ensembl
OuterchrX:127038620..127070922hg18UCSC Ensembl
OuterchrX:126936474..126968776hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg387122
hg197122
hg187122
hg177122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6372
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)nsv7083
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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