A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703042



Internal ID15439694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:55945684..56159013hg38UCSC Ensembl
Innerchr6:55810482..56023811hg19UCSC Ensembl
Innerchr6:55918441..56131770hg18UCSC Ensembl
Innerchr6:55918441..56131770hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38213330
hg19213330
hg18213330
hg17213330
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526703
Supporting Variants
Samples
Known GenesCOL21A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703042
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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