A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010777



Internal ID18753309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:30672332..30792998hg38UCSC Ensembl
Innerchr1:31145179..31265845hg19UCSC Ensembl
Innerchr1:30917766..31038432hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38120667
hg19120667
hg18120667
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv145n100
Supporting Variantsnssv3471984
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)nsv1010777
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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