A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv709



Internal ID15205378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:52500235..52564462hg38UCSC Ensembl
Outerchr12:52894019..52958246hg19UCSC Ensembl
Outerchr12:51180286..51244513hg18UCSC Ensembl
Outerchr12:51180286..51244513hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg385520
hg195520
hg185520
hg175520
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5422, nssv2884
SamplesNA18555, NA19129
Known GenesKRT5, KRT71
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)nsv709
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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