A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022578



Internal ID19111796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:48204817..48545068hg38UCSC Ensembl
Innerchr7:48244414..48584664hg19UCSC Ensembl
Innerchr7:48214960..48555210hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38340252
hg19340251
hg18340251
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6346n100
Supporting Variantsnssv3661253
Samples
Known GenesABCA13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022578
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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