A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2464191



Internal ID17809579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75257668..75280645hg38UCSC Ensembl
Innerchr7:74673246..74695468hg19UCSC Ensembl
Innerchr7:74311182..74333404hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3822978
hg1922223
hg1822223
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv981531
Supporting Variants
SamplesHGDP00778
Known GenesGTF2IP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2464191
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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