A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696101



Internal ID15086067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:11797654..11802721hg38UCSC Ensembl
Innerchr1:11857711..11862778hg19UCSC Ensembl
Innerchr1:11780298..11785365hg18UCSC Ensembl
Innerchr1:11791977..11797044hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg385068
hg195068
hg185068
hg175068
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518652
Supporting Variants
Samples
Known GenesMTHFR
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696101
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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