A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003359



Internal ID18745891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180331801..180758425hg38UCSC Ensembl
Innerchr1:180300936..180727561hg19UCSC Ensembl
Innerchr1:178567559..178994184hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38426625
hg19426626
hg18426626
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3704830
Samples
Known GenesACBD6, MIR3121, XPR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003359
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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