A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10208



Internal ID15195904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:26696612..26723739hg38UCSC Ensembl
Outerchr2:26919480..26946607hg19UCSC Ensembl
Outerchr2:26772984..26800111hg18UCSC Ensembl
Outerchr2:26831131..26858258hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg387837
hg197837
hg187837
hg177837
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2652
Supporting Variants
SamplesNA18956
Known GenesKCNK3
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)nssv10208
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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