A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2156155



Internal ID17453967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:52479804..52584984hg38UCSC Ensembl
Innerchr19:52983057..53088237hg19UCSC Ensembl
Innerchr19:57674869..57780049hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38105181
hg19105181
hg18105181
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978841
Supporting Variants
SamplesHGDP00778
Known GenesZNF578, ZNF701, ZNF808
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2156155
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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