A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2472617



Internal ID17462858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102327101..102390955hg38UCSC Ensembl
Innerchr7:101967519..102031402hg19UCSC Ensembl
Innerchr7:101754239..101818407hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3863855
hg1963884
hg1864169
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970918
Supporting Variants
SamplesHGDP00778
Known GenesLOC100289561, LOC100630923, SPDYE6
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)nssv2472617
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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