A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1502



Internal ID15544199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:72547479..72582110hg38UCSC Ensembl
Outerchr2:72774608..72809239hg19UCSC Ensembl
Outerchr2:72628116..72662747hg18UCSC Ensembl
Outerchr2:72686263..72720894hg17UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg386351
hg196351
hg186351
hg176351
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2774
Supporting Variants
SamplesNA19240
Known GenesEXOC6B
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)nssv1502
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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