A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023575



Internal ID19112792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:48204817..48547089hg38UCSC Ensembl
Innerchr7:48244414..48586685hg19UCSC Ensembl
Innerchr7:48214960..48557231hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38342273
hg19342272
hg18342272
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6346n100
Supporting Variantsnssv3661255, nssv3661254
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)nsv1023575
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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