A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3500



Internal ID15538228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:4581851..4618924hg38UCSC Ensembl
Outerchr7:4621482..4658555hg19UCSC Ensembl
Outerchr7:4588008..4625081hg18UCSC Ensembl
Outerchr7:4394723..4431796hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3837074
hg1937074
hg1837074
hg1737074
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5625
Supporting Variants
SamplesNA12878
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)nssv3500
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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