A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6830



Internal ID15551779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:21566490..21600695hg38UCSC Ensembl
OuterchrX:21584608..21618813hg19UCSC Ensembl
OuterchrX:21494529..21528734hg18UCSC Ensembl
OuterchrX:21344265..21378470hg17UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg386799
hg196799
hg186799
hg176799
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv855
SamplesNA19240
Known GenesCNKSR2
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)nsv6830
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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