A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2904



Internal ID15547467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:125670530..125709760hg38UCSC Ensembl
Outerchr2:126428107..126467337hg19UCSC Ensembl
Outerchr2:126144577..126183807hg18UCSC Ensembl
Outerchr2:126144337..126183567hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3839231
hg1939231
hg1839231
hg1739231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1534, nssv5815, nssv9862, nssv6867, nssv10235, nssv9351, nssv11020
SamplesNA18507, NA12156, NA18956, NA15510, NA18517, NA19240, NA19129
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)nsv2904
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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