A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv848



Internal ID15544841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:5044279..5051625hg38UCSC Ensembl
OuterchrX:4962320..4969666hg19UCSC Ensembl
OuterchrX:4972320..4979666hg18UCSC Ensembl
OuterchrX:4822056..4829402hg17UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg389410
hg199410
hg189410
hg179410
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6782
Supporting Variants
SamplesNA19240
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)nssv848
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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