A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7499



Internal ID15536365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:60095359..60140667hg38UCSC Ensembl
Outerchr2:60322494..60367802hg19UCSC Ensembl
Outerchr2:60175998..60221306hg18UCSC Ensembl
Outerchr2:60234145..60279453hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3845309
hg1945309
hg1845309
hg1745309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2747
Supporting Variants
SamplesNA12156
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)nssv7499
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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