A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5422



Internal ID15196869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:52500235..52533190hg38UCSC Ensembl
Outerchr12:52894019..52926974hg19UCSC Ensembl
Outerchr12:51180286..51213241hg18UCSC Ensembl
Outerchr12:51180286..51213241hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg386324
hg196324
hg186324
hg176324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv709
Supporting Variants
SamplesNA19129
Known GenesKRT5
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)nssv5422
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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