A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6805



Internal ID15551751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:13169480..13202642hg38UCSC Ensembl
OuterchrX:13187599..13220761hg19UCSC Ensembl
OuterchrX:13097520..13130682hg18UCSC Ensembl
OuterchrX:12947256..12980418hg17UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg386478
hg196478
hg186478
hg176478
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769
SamplesNA12878
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)nsv6805
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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