A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2440837



Internal ID17805967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:30522528..30550913hg38UCSC Ensembl
Innerchr7:30562144..30590529hg19UCSC Ensembl
Innerchr7:30528669..30557054hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3828386
hg1928386
hg1828386
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966770
Supporting Variants
SamplesHGDP00778
Known GenesLOC401320
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)nssv2440837
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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