A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2463660



Internal ID17885621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75198892..75201680hg38UCSC Ensembl
Innerchr7:74614606..74617397hg19UCSC Ensembl
Innerchr7:74252542..74255333hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382789
hg192792
hg182792
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970884
Supporting Variants
SamplesHGDP01307
Known GenesGTF2IP1, LOC100093631
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)nssv2463660
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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