A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2397



Internal ID15194052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:57290408..57304960hg38UCSC Ensembl
Outerchr3:57324436..57338988hg19UCSC Ensembl
Outerchr3:57299476..57314028hg18UCSC Ensembl
Outerchr3:57299476..57314028hg17UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg387808
hg197808
hg187808
hg177808
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3836
Supporting Variants
SamplesNA18555
Known GenesASB14, DNAH12
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)nssv2397
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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