A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv630



Internal ID15545239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:49675454..49689886hg38UCSC Ensembl
Outerchr7:49715050..49729482hg19UCSC Ensembl
Outerchr7:49685596..49700028hg18UCSC Ensembl
Outerchr7:49492311..49506743hg17UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg3814433
hg1914433
hg1814433
hg1714433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5736
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)nssv630
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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