A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3808



Internal ID15538535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:87628573..87640702hg38UCSC Ensembl
OuterchrX:86883573..86895702hg19UCSC Ensembl
OuterchrX:86770229..86782358hg18UCSC Ensembl
OuterchrX:86689718..86701847hg17UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg384466
hg194466
hg184466
hg174466
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6989
Supporting Variants
SamplesNA12878
Known GenesKLHL4
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)nssv3808
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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