A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009742



Internal ID18752273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180373068..180416324hg38UCSC Ensembl
Innerchr1:180342203..180385459hg19UCSC Ensembl
Innerchr1:178608826..178652082hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3843257
hg1943257
hg1843257
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3489416
Samples
Known GenesACBD6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009742
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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