A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019120



Internal ID19108338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:4890022..5098778hg38UCSC Ensembl
Innerchr7:4929653..5138409hg19UCSC Ensembl
Innerchr7:4896179..5104935hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38208757
hg19208757
hg18208757
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3655052
Samples
Known GenesMMD2, RBAK, RBAKDN, RBAK-RBAKDN, RNF216P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019120
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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