A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005877



Internal ID18748408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235912335..237038508hg38UCSC Ensembl
Innerchr1:236075635..237201808hg19UCSC Ensembl
Innerchr1:234142258..235268431hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg381126174
hg191126174
hg181126174
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3501834
Samples
Known GenesACTN2, EDARADD, ERO1LB, GPR137B, HEATR1, LGALS8, LGALS8-AS1, MT1HL1, MTR, NID1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005877
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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