A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv649



Internal ID15204718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:26384446..26416191hg38UCSC Ensembl
Outerchr12:26537379..26569124hg19UCSC Ensembl
Outerchr12:26428646..26460391hg18UCSC Ensembl
Outerchr12:26428646..26460391hg17UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg388282
hg198282
hg188282
hg178282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1988
SamplesNA18555
Known GenesITPR2
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)nsv649
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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