A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057657



Internal ID18800188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42798345..43572412hg38UCSC Ensembl
Innerchr19:43302497..44076564hg19UCSC Ensembl
Innerchr19:47994337..48768404hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38774068
hg19774068
hg18774068
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3569561
Samples
Known GenesCD177, ETHE1, LOC100289650, LOC284344, LYPD3, PHLDB3, PRG1, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7, PSG9, TEX101, XRCC1, ZNF575
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057657
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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