A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004669



Internal ID18747200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:75835513..75943766hg38UCSC Ensembl
Innerchr1:76301198..76409451hg19UCSC Ensembl
Innerchr1:76073786..76182039hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38108254
hg19108254
hg18108254
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3471255
Samples
Known GenesASB17, MSH4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004669
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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