A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2490772



Internal ID17739971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:156620666..156635709hg38UCSC Ensembl
Innerchr7:156413360..156428403hg19UCSC Ensembl
Innerchr7:156106121..156121164hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3815044
hg1915044
hg1815044
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970621
Supporting Variants
SamplesHGDP00456
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)nssv2490772
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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