A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1048



Internal ID15198350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31493129..31521971hg38UCSC Ensembl
Outerchr1:31965976..31987572hg19UCSC Ensembl
Outerchr1:31738563..31760159hg18UCSC Ensembl
Outerchr1:31635069..31656665hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg387948
hg197948
hg187948
hg177948
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7723
Supporting Variants
SamplesNA19240
Known GenesLOC149086, LOC284551
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)nssv1048
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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