A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056342



Internal ID19145561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43208434..43252073hg38UCSC Ensembl
Innerchr19:43712586..43756225hg19UCSC Ensembl
Innerchr19:48404426..48448065hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3843640
hg1943640
hg1843640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3600n100
Supporting Variantsnssv3573747, nssv3724878, nssv3573750, nssv3573749, nssv3573737, nssv3724877, nssv3573731, nssv3573736, nssv3573742, nssv3573746, nssv3573730, nssv3724873, nssv3573740, nssv3724879, nssv3573733, nssv3573744, nssv3573743, nssv3724874, nssv3573732, nssv3724876, nssv3573739, nssv3573752, nssv3573734, nssv3573748, nssv3573741, nssv3724875, nssv3573735, nssv3573745, nssv3573738, nssv3573751
Samples
Known GenesLOC284344
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056342
Frequency
Sample Size11257
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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