A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6310



Internal ID15190868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:14616942..14648950hg38UCSC Ensembl
OuterchrX:14635064..14667072hg19UCSC Ensembl
OuterchrX:14544985..14576993hg18UCSC Ensembl
OuterchrX:14394721..14426729hg17UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg387408
hg197408
hg187408
hg177408
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6811
Supporting Variants
SamplesNA12156
Known GenesGLRA2
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)nssv6310
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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