A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6340



Internal ID15190838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:69622883..69655787hg38UCSC Ensembl
OuterchrX:68842727..68875631hg19UCSC Ensembl
OuterchrX:68759452..68792356hg18UCSC Ensembl
OuterchrX:68625748..68658652hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg386536
hg196536
hg186536
hg176536
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6946
Supporting Variants
SamplesNA12156
Known GenesEDA
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)nssv6340
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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