A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012556



Internal ID18755089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:35413704..35703660hg38UCSC Ensembl
Innerchr1:35879305..36169261hg19UCSC Ensembl
Innerchr1:35651892..35941848hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38289957
hg19289957
hg18289957
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3473323
Samples
Known GenesKIAA0319L, NCDN, PSMB2, TFAP2E, ZMYM4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012556
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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