A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517035



Internal ID15097642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:185445161..185600889hg38UCSC Ensembl
Innerchr4:186366315..186522043hg19UCSC Ensembl
Innerchr4:186603309..186759037hg18UCSC Ensembl
Innerchr4:186741464..186897192hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38155729
hg19155729
hg18155729
hg17155729
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv679927, nssv654362, nssv653650, nssv675030, nssv703441, nssv692693, nssv668995, nssv655312, nssv693963, nssv680355, nssv679238, nssv687893
Samples
Known GenesC4orf47, CCDC110, PDLIM3, SORBS2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517035
Frequency
Sample Size2026
Observed Gain3
Observed Loss9
Observed Complex0
Frequencyn/a


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