A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017721



Internal ID18760255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76514308..76927895hg38UCSC Ensembl
Innerchr7:76143625..76557212hg19UCSC Ensembl
Innerchr7:75981561..76395148hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38413588
hg19413588
hg18413588
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6473n100
Supporting Variantsnssv3656563, nssv3656568, nssv3656564, nssv3656566, nssv3656567, nssv3656565, nssv3656562, nssv3656561, nssv3656560
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)nsv1017721
Frequency
Sample Size29084
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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