A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056752



Internal ID18799283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7013634..7129698hg38UCSC Ensembl
Innerchr19:7013645..7129709hg19UCSC Ensembl
Innerchr19:6964645..7080709hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38116065
hg19116065
hg18116065
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564662
Samples
Known GenesINSR, MBD3L2, MBD3L3, MBD3L4, MBD3L5, ZNF557
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056752
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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