A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv677



Internal ID15551712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:41911394..41944969hg38UCSC Ensembl
Outerchr1:42377065..42410640hg19UCSC Ensembl
Outerchr1:42149652..42183227hg18UCSC Ensembl
Outerchr1:42046158..42079733hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg385697
hg195697
hg185697
hg175697
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5517
SamplesNA19129
Known GenesHIVEP3
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)nsv677
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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