A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031997



Internal ID18774531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76550385..76940323hg38UCSC Ensembl
Innerchr7:76179702..76569640hg19UCSC Ensembl
Innerchr7:76017638..76407576hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38389939
hg19389939
hg18389939
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6479n100
Supporting Variantsnssv3656637, nssv3656639, nssv3755352, nssv3656634, nssv3656638, nssv3656640, nssv3656636, nssv3656635
Samples
Known GenesLOC100133091, POMZP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031997
Frequency
Sample Size29084
Observed Gain5
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer