A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2964



Internal ID15541586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:34800942..34819389hg38UCSC Ensembl
Outerchr17:33127961..33146408hg19UCSC Ensembl
Outerchr17:30152074..30170521hg18UCSC Ensembl
Outerchr17:30152074..30170521hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg386070
hg196070
hg186070
hg176070
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2033
Supporting Variants
SamplesNA18555
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)nssv2964
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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