A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2875



Internal ID15541684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7390811..7406558hg38UCSC Ensembl
Outerchr12:7543407..7559154hg19UCSC Ensembl
Outerchr12:7434674..7450421hg18UCSC Ensembl
Outerchr12:7434674..7450421hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg386482
hg196482
hg186482
hg176482
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv595
Supporting Variants
SamplesNA18555
Known GenesCD163L1
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)nssv2875
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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