A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6330



Internal ID15537533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:50143852..50174297hg38UCSC Ensembl
OuterchrX:49908501..49938941hg19UCSC Ensembl
OuterchrX:49795241..49825681hg18UCSC Ensembl
OuterchrX:49611537..49641977hg17UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg388998
hg198998
hg188998
hg178998
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6904
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)nssv6330
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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