A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2474391



Internal ID17460196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:103098107..103099870hg38UCSC Ensembl
Innerchr7:102738554..102740317hg19UCSC Ensembl
Innerchr7:102525790..102527553hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381764
hg191764
hg181764
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv981565
Supporting Variants
SamplesHGDP00778
Known GenesARMC10, NAPEPLD
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2474391
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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