A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2465232



Internal ID17523465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74950165..74969799hg38UCSC Ensembl
Innerchr7:74862503..74882163hg19UCSC Ensembl
Innerchr7:74700439..74720099hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3819635
hg1919661
hg1819661
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv970537
Supporting Variants
SamplesHGDP01284
Known GenesGATSL1, GATSL2, GTF2IP1, PMS2P5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2465232
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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