A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3656512



Internal ID18608107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76443262..77083484hg38UCSC Ensembl
Innerchr7:76072579..76712801hg19UCSC Ensembl
Innerchr7:75910515..76550737hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38640223
hg19640223
hg18640223
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1028429
Supporting Variants
Samples
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, FDPSP2, LOC100132832, LOC100133091, POMZP3, UPK3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3656512
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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