A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3655052



Internal ID18606647
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 StatusS
Merged Variantsnsv1019120
Supporting Variants
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)nssv3655052
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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