A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2440393



Internal ID17837834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:34869091..34897630hg38UCSC Ensembl
Innerchr7:34908703..34937242hg19UCSC Ensembl
Innerchr7:34875228..34903767hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3828540
hg1928540
hg1828540
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970812
Supporting Variants
SamplesHGDP00998
Known GenesNPSR1
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)nssv2440393
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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