A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019012



Internal ID18761545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76514308..76940323hg38UCSC Ensembl
Innerchr7:76143625..76569640hg19UCSC Ensembl
Innerchr7:75981561..76407576hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38426016
hg19426016
hg18426016
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6474n100
Supporting Variantsnssv3656578, nssv3656579, nssv3755346, nssv3656577, nssv3656580
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)nsv1019012
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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