A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2842



Internal ID15541721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:147272026..147285743hg38UCSC Ensembl
OuterchrX:146353544..146367261hg19UCSC Ensembl
OuterchrX:146161236..146174953hg18UCSC Ensembl
OuterchrX:146059090..146072807hg17UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg386266
hg196266
hg186266
hg176266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7138
Supporting Variants
SamplesNA18555
Known GenesMIR510, MIR514A1, MIR514A2, MIR514A3
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)nssv2842
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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