A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006061



Internal ID18748592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:157575934..157721106hg38UCSC Ensembl
Innerchr2:158432446..158577618hg19UCSC Ensembl
Innerchr2:158140692..158285864hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38145173
hg19145173
hg18145173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582977
Samples
Known GenesACVR1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006061
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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