A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702385



Internal ID15092351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:22802700..23199514hg38UCSC Ensembl
Innerchr7:22842319..23239133hg19UCSC Ensembl
Innerchr7:22808844..23205658hg18UCSC Ensembl
Innerchr7:22615559..23012373hg17UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38396815
hg19396815
hg18396815
hg17396815
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526131
Supporting Variants
Samples
Known GenesFAM126A, KLHL7, KLHL7-AS1, NUPL2, SNORD93, TOMM7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702385
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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