A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4845



Internal ID15543055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:75126595..75129477hg38UCSC Ensembl
Outerchr5:74422420..74425302hg19UCSC Ensembl
Outerchr5:74458176..74461058hg18UCSC Ensembl
Outerchr5:74458176..74461058hg17UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg386004
hg196004
hg186004
hg176004
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4879
Supporting Variants
SamplesNA19129
Known GenesANKRD31
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)nssv4845
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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