A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032424



Internal ID19121646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76514308..76882071hg38UCSC Ensembl
Innerchr7:76143625..76511388hg19UCSC Ensembl
Innerchr7:75981561..76349324hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38367764
hg19367764
hg18367764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6473n100
Supporting Variantsnssv3755345, nssv3656557
Samples
Known GenesLOC100133091, 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)nsv1032424
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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