A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2444101



Internal ID17804032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:39873693..39884059hg38UCSC Ensembl
Innerchr7:39913292..39923658hg19UCSC Ensembl
Innerchr7:39879817..39890183hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3810367
hg1910367
hg1810367
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966783
Supporting Variants
SamplesHGDP00778
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)nssv2444101
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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