A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700076



Internal ID15090042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247556075..247560368hg38UCSC Ensembl
Innerchr1:247719377..247723670hg19UCSC Ensembl
Innerchr1:245786000..245790293hg18UCSC Ensembl
Innerchr1:244045418..244049711hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg384294
hg194294
hg184294
hg174294
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524193
Supporting Variants
Samples
Known GenesGCSAML
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700076
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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