A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2597



Internal ID15200474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:6929286..6960834hg38UCSC Ensembl
Outerchr2:7069417..7100965hg19UCSC Ensembl
Outerchr2:6986868..7018416hg18UCSC Ensembl
Outerchr2:7020015..7051563hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg388198
hg198198
hg188198
hg178198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4395
SamplesNA12878
Known GenesRNF144A
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)nsv2597
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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