A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701248



Internal ID15091214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:41482073..41487237hg38UCSC Ensembl
Innerchr1:41947744..41952908hg19UCSC Ensembl
Innerchr1:41720331..41725495hg18UCSC Ensembl
Innerchr1:41616837..41622001hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg385165
hg195165
hg185165
hg175165
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525172
Supporting Variants
Samples
Known GenesEDN2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701248
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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