A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2763398



Internal ID17453142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:40036282..40158356hg38UCSC Ensembl
Innerchr7:40075881..40197955hg19UCSC Ensembl
Innerchr7:40042406..40164480hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38122075
hg19122075
hg18122075
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971193
Supporting Variants
SamplesHGDP00778
Known GenesC7orf10, CDK13, MPLKIP
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2763398
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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