A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6812



Internal ID15537051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:3179954..3186482hg38UCSC Ensembl
Outerchr2:3183725..3190253hg19UCSC Ensembl
Outerchr2:3162732..3169260hg18UCSC Ensembl
Outerchr2:4722008..4728536hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3810212
hg1910212
hg1810212
hg1710212
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2581
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)nssv6812
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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