A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7972



Internal ID15535892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:73262864..73287285hg38UCSC Ensembl
Outerchr4:74128581..74153002hg19UCSC Ensembl
Outerchr4:74347445..74371866hg18UCSC Ensembl
Outerchr4:74493616..74518037hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg385460
hg195460
hg185460
hg175460
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4388
Supporting Variants
SamplesNA12156
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)nssv7972
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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