A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2640



Internal ID15547203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:23750299..23764554hg38UCSC Ensembl
Outerchr2:23973169..23987424hg19UCSC Ensembl
Outerchr2:23826673..23840928hg18UCSC Ensembl
Outerchr2:23884820..23899075hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3814256
hg1914256
hg1814256
hg1714256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6823
SamplesNA12156
Known GenesATAD2B
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)nsv2640
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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