A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578432



Internal ID16019155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:3937430..3938509hg38UCSC Ensembl
Innerchr19:3937428..3938507hg19UCSC Ensembl
Innerchr19:3888428..3889507hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381080
hg191080
hg181080
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6229n54
Supporting Variantsnssv892855, nssv892893, nssv892858, nssv892878, nssv892870, nssv892865, nssv892871, nssv892857, nssv892888, nssv892884, nssv892879, nssv892887, nssv892895, nssv892881, nssv892861, nssv892867, nssv892859, nssv892868, nssv892892, nssv892882, nssv892874, nssv892886, nssv892890, nssv892875, nssv892876, nssv892885, nssv892889, nssv892866, nssv892891, nssv892880, nssv892894, nssv892873, nssv892860, nssv892869, nssv892862, nssv892877, nssv892872, nssv892863, nssv892883, nssv892856, nssv892864
Samples
Known GenesNMRK2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578432
Frequency
Sample Size17421
Observed Gain26
Observed Loss15
Observed Complex0
Frequencyn/a


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