A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7486



Internal ID15189692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:37322953..37367780hg38UCSC Ensembl
Outerchr2:37550096..37594923hg19UCSC Ensembl
Outerchr2:37403600..37448427hg18UCSC Ensembl
Outerchr2:37461747..37506574hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3844828
hg1944828
hg1844828
hg1744828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2685
Supporting Variants
SamplesNA12156
Known GenesQPCT
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)nssv7486
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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