A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001073



Internal ID18743604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130290533..130400286hg38UCSC Ensembl
Innerchr2:131048106..131157859hg19UCSC Ensembl
Innerchr2:130764576..130874329hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38109754
hg19109754
hg18109754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580839
Samples
Known GenesCCDC115, IMP4, PTPN18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001073
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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