A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2652



Internal ID15200529
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10208
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)nsv2652
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer