A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1162



Internal ID15197887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:67394481..67428346hg38UCSC Ensembl
Outerchr1:67860164..67894029hg19UCSC Ensembl
Outerchr1:67632752..67666617hg18UCSC Ensembl
Outerchr1:67572185..67606050hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg387127
hg197127
hg187127
hg177127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1254
Supporting Variants
SamplesNA19240
Known GenesIL12RB2, SERBP1
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)nssv1162
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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