A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2667



Internal ID15200544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:32219741..32264686hg38UCSC Ensembl
Outerchr2:32444810..32489755hg19UCSC Ensembl
Outerchr2:32298314..32343259hg18UCSC Ensembl
Outerchr2:32356461..32401406hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3844946
hg1944946
hg1844946
hg1744946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7480
SamplesNA12156
Known GenesNLRC4, SLC30A6
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)nsv2667
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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