A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6841



Internal ID15537022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:52520789..52562498hg38UCSC Ensembl
Outerchr2:52747927..52789636hg19UCSC Ensembl
Outerchr2:52601431..52643140hg18UCSC Ensembl
Outerchr2:52659578..52701287hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3841710
hg1941710
hg1841710
hg1741710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2728
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)nssv6841
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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