A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607623



Internal ID16048346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76556311..77008124hg38UCSC Ensembl
Innerchr7:76185628..76637441hg19UCSC Ensembl
Innerchr7:76023564..76475377hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38451814
hg19451814
hg18451814
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11464n54
Supporting Variantsnssv1155183
SamplesNINDS_20
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100133091, POMZP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607623
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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