A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9862



Internal ID15539935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:125670530..125694974hg38UCSC Ensembl
Outerchr2:126428107..126452551hg19UCSC Ensembl
Outerchr2:126144577..126169021hg18UCSC Ensembl
Outerchr2:126144337..126168781hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3824445
hg1924445
hg1824445
hg1724445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2904
Supporting Variants
SamplesNA18507
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)nssv9862
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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