A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031048



Internal ID19120269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:67257116..67379052hg38UCSC Ensembl
Innerchr7:66722103..66844039hg19UCSC Ensembl
Innerchr7:66359538..66481474hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38121937
hg19121937
hg18121937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6447n100
Supporting Variantsnssv3755293
Samples
Known GenesLOC101929736, PMS2P4, STAG3L4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031048
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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