A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4472



Internal ID15539199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:155657137..155674865hg38UCSC Ensembl
Outerchr2:156513649..156531377hg19UCSC Ensembl
Outerchr2:156221895..156239623hg18UCSC Ensembl
Outerchr2:156339157..156356885hg17UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg386109
hg196109
hg186109
hg176109
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2986
Supporting Variants
SamplesNA12878
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)nssv4472
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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