A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5004



Internal ID8516752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:132862410..132869128hg38UCSC Ensembl
Outerchr5:132198102..132204820hg19UCSC Ensembl
Outerchr5:132226001..132232719hg18UCSC Ensembl
Outerchr5:132226001..132232719hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg387330
hg197330
hg187330
hg177330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv496
SamplesNA19240
Known GenesGDF9, UQCRQ
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)nsv5004
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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