A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9443



Internal ID15193708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:101000394..101014609hg38UCSC Ensembl
Outerchr7:100643675..100657890hg19UCSC Ensembl
Outerchr7:100430395..100444610hg18UCSC Ensembl
Outerchr7:100237110..100251325hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3817549
hg1917549
hg1817549
hg1717549
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5872
Supporting Variants
SamplesNA18517
Known GenesMUC12
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)nssv9443
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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