A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001237



Internal ID19090454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:30090604..30706742hg38UCSC Ensembl
Innerchr1:30563451..31179589hg19UCSC Ensembl
Innerchr1:30336038..30952176hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38616139
hg19616139
hg18616139
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv143n100
Supporting Variantsnssv3478380, nssv3463119, nssv3465063
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001237
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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