A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6347



Internal ID15537516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:82648625..82680030hg38UCSC Ensembl
OuterchrX:81904074..81935479hg19UCSC Ensembl
OuterchrX:81790730..81822135hg18UCSC Ensembl
OuterchrX:81710219..81741624hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg388032
hg198032
hg188032
hg178032
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6979
Supporting Variants
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)nssv6347
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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