A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2439512



Internal ID17770374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:26980197..26983748hg38UCSC Ensembl
Innerchr7:27019816..27023367hg19UCSC Ensembl
Innerchr7:26986341..26989892hg18UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg383552
hg193552
hg183552
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966767
Supporting Variants
SamplesHGDP00542
Known Genes
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)nssv2439512
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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