A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7042



Internal ID15552012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:112589089..112622879hg38UCSC Ensembl
OuterchrX:111832317..111866107hg19UCSC Ensembl
OuterchrX:111718973..111752763hg18UCSC Ensembl
OuterchrX:111638462..111672252hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg386158
hg196158
hg186158
hg176158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5248, nssv2837
SamplesNA18555, NA19129
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)nsv7042
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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