A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000950



Internal ID19090167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:238380029..238508994hg38UCSC Ensembl
Innerchr1:238543329..238672294hg19UCSC Ensembl
Innerchr1:236609952..236738917hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38128966
hg19128966
hg18128966
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3485285
Samples
Known GenesLINC01139
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000950
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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