A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6997



Internal ID15190181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:25752343..25785188hg38UCSC Ensembl
Outerchr3:25793834..25826679hg19UCSC Ensembl
Outerchr3:25768838..25801683hg18UCSC Ensembl
Outerchr3:25768838..25801683hg17UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg386591
hg196591
hg186591
hg176591
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3736
Supporting Variants
SamplesNA12156
Known GenesNGLY1
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)nssv6997
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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