A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6490



Internal ID15190688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9459464..9584200hg38UCSC Ensembl
Outerchr12:9612060..9736796hg19UCSC Ensembl
Outerchr12:9503327..9628063hg18UCSC Ensembl
Outerchr12:9503327..9628063hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38124737
hg19124737
hg18124737
hg17124737
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv602
Supporting Variants
SamplesNA12156
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)nssv6490
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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