A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031849



Internal ID19121071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140953984..141040639hg38UCSC Ensembl
Innerchr5:140333569..140420224hg19UCSC Ensembl
Innerchr5:140313753..140400408hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3886656
hg1986656
hg1886656
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648145, nssv3648144
Samples
Known GenesPCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHAC1, PCDHAC2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031849
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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