A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7010



Internal ID15190168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52799815..52832115hg38UCSC Ensembl
Outerchr3:52833831..52866131hg19UCSC Ensembl
Outerchr3:52808871..52841171hg18UCSC Ensembl
Outerchr3:52808871..52841171hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg387139
hg197139
hg187139
hg177139
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3822
Supporting Variants
SamplesNA12156
Known GenesITIH3, ITIH4
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)nssv7010
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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