A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6147



Internal ID15191031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:76514913..76549216hg38UCSC Ensembl
Outerchr7:76144230..76178533hg19UCSC Ensembl
Outerchr7:75982166..76016469hg18UCSC Ensembl
Outerchr7:75788881..75823184hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3834304
hg1934304
hg1834304
hg1734304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5797
Supporting Variants
SamplesNA12156
Known GenesUPK3B
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)nssv6147
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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