A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10728



Internal ID15195384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:119862293..119894925hg38UCSC Ensembl
OuterchrX:118996256..119028888hg19UCSC Ensembl
OuterchrX:118880284..118912916hg18UCSC Ensembl
OuterchrX:118778138..118810770hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg386870
hg196870
hg186870
hg176870
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7057
Supporting Variants
SamplesNA18956
Known GenesNDUFA1, RNF113A
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)nssv10728
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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