A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2657



Internal ID15200534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:29022480..29067072hg38UCSC Ensembl
Outerchr2:29245346..29289938hg19UCSC Ensembl
Outerchr2:29098850..29143442hg18UCSC Ensembl
Outerchr2:29156997..29201589hg17UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3844593
hg1944593
hg1844593
hg1744593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4650
SamplesNA19129
Known GenesC2orf71, FAM179A
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)nsv2657
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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