A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997356



Internal ID18810206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:30666071..30778851hg38UCSC Ensembl
Innerchr1:31138918..31251698hg19UCSC Ensembl
Innerchr1:30911505..31024285hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38112781
hg19112781
hg18112781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv145n100
Supporting Variantsnssv3700636
Samples
Known GenesLAPTM5, MATN1, MATN1-AS1, MIR4420
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997356
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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