A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv637



Internal ID8518254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:21640031..21672432hg38UCSC Ensembl
Outerchr12:21792965..21825366hg19UCSC Ensembl
Outerchr12:21684232..21716633hg18UCSC Ensembl
Outerchr12:21684232..21716633hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg386877
hg196877
hg186877
hg176877
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5410
SamplesNA19129
Known GenesLDHB
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)nsv637
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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