A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4032



Internal ID15538759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:70934855..70949145hg38UCSC Ensembl
Outerchr12:71328635..71342925hg19UCSC Ensembl
Outerchr12:69614902..69629192hg18UCSC Ensembl
Outerchr12:69614902..69629192hg17UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3813360
hg1913360
hg1813360
hg1713360
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv765
Supporting Variants
SamplesNA12878
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)nssv4032
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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