A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv678



Internal ID15545282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:113774120..113783213hg38UCSC Ensembl
Outerchr7:113414175..113423268hg19UCSC Ensembl
Outerchr7:113201411..113210504hg18UCSC Ensembl
Outerchr7:113008126..113017219hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg389094
hg199094
hg189094
hg179094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5911
Supporting Variants
SamplesNA19240
Known Genes
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)nssv678
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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