A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005677



Internal ID18748208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:236369512..236811991hg38UCSC Ensembl
Innerchr2:237278155..237720634hg19UCSC Ensembl
Innerchr2:236942894..237385373hg18UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38442480
hg19442480
hg18442480
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729381
Samples
Known GenesACKR3, IQCA1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005677
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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