A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516557



Internal ID15097164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:244381516..244538198hg38UCSC Ensembl
Innerchr1:244544818..244701500hg19UCSC Ensembl
Innerchr1:242611441..242768123hg18UCSC Ensembl
Innerchr1:240870859..241027541hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38156683
hg19156683
hg18156683
hg17156683
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705662, nssv669142, nssv688542
Samples
Known GenesADSS, C1orf100, C1orf101
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516557
Frequency
Sample Size2026
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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