A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022194



Internal ID18764728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76506401..76883659hg38UCSC Ensembl
Innerchr7:76135718..76512976hg19UCSC Ensembl
Innerchr7:75973654..76350912hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38377259
hg19377259
hg18377259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6474n100
Supporting Variantsnssv3656537
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)nsv1022194
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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