A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713



Internal ID15550550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:40827879..40843508hg38UCSC Ensembl
Outerchr7:40867478..40883107hg19UCSC Ensembl
Outerchr7:40834003..40849632hg18UCSC Ensembl
Outerchr7:40640718..40656347hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg388306
hg198306
hg188306
hg178306
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623
SamplesNA19240
Known GenesC7orf10
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)nsv5713
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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