A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9830



Internal ID15193210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9459858..9583433hg38UCSC Ensembl
Outerchr12:9612454..9736029hg19UCSC Ensembl
Outerchr12:9503721..9627296hg18UCSC Ensembl
Outerchr12:9503721..9627296hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38123576
hg19123576
hg18123576
hg17123576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv602
Supporting Variants
SamplesNA18507
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)nssv9830
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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