A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2757812



Internal ID17452136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:37651488..37654595hg38UCSC Ensembl
Innerchr13:38225625..38228732hg19UCSC Ensembl
Innerchr13:37123625..37126732hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg383108
hg193108
hg183108
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983740
Supporting Variants
SamplesHGDP00778
Known GenesTRPC4
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2757812
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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