A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2636



Internal ID15547199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:22947844..22979283hg38UCSC Ensembl
Outerchr2:23170716..23202155hg19UCSC Ensembl
Outerchr2:23024221..23055660hg18UCSC Ensembl
Outerchr2:23082368..23113807hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg388703
hg198703
hg188703
hg178703
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4405, nssv5778, nssv2252, nssv6822
SamplesNA12156, NA12878, NA18555, NA19129
Known Genes
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)nsv2636
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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