A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2487659



Internal ID17501593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152243017..152244217hg38UCSC Ensembl
Innerchr7:151940102..151941302hg19UCSC Ensembl
Innerchr7:151571035..151572235hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg381201
hg191201
hg181201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv970610
Supporting Variants
SamplesHGDP01029
Known GenesKMT2C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2487659
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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