A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2468



Internal ID15540660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:62790960..62837590hg38UCSC Ensembl
Outerchr4:63656678..63703308hg19UCSC Ensembl
Outerchr4:63339273..63385903hg18UCSC Ensembl
Outerchr4:63485444..63532074hg17UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3846631
hg1946631
hg1846631
hg1746631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4360
Supporting Variants
SamplesNA18555
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)nssv2468
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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