A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2717285



Internal ID17878485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75280645..75287977hg38UCSC Ensembl
Innerchr7:74695468..74702788hg19UCSC Ensembl
Innerchr7:74333404..74340724hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387333
hg197321
hg187321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981532
Supporting Variants
SamplesHGDP01307
Known GenesGTF2IP1, PMS2P5
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2717285
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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