A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv632



Internal ID15545237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:53034041..53067277hg38UCSC Ensembl
Outerchr7:53101734..53134970hg19UCSC Ensembl
Outerchr7:53069228..53102464hg18UCSC Ensembl
Outerchr7:52875943..52909179hg17UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg387760
hg197760
hg187760
hg177760
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5745
Supporting Variants
SamplesNA19240
Known GenesPOM121L12
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)nssv632
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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