A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006598



Internal ID18749129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:179902256..180058324hg38UCSC Ensembl
Innerchr2:180766983..180923051hg19UCSC Ensembl
Innerchr2:180475228..180631296hg18UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38156069
hg19156069
hg18156069
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583124
Samples
Known GenesCWC22
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006598
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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