A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010146



Internal ID18752677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155146620..155231273hg38UCSC Ensembl
Innerchr1:155119096..155201064hg19UCSC Ensembl
Innerchr1:153385720..153467688hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3884654
hg1981969
hg1881969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3491862
Samples
Known GenesGBAP1, KRTCAP2, MIR92B, MTX1, MUC1, THBS3, TRIM46
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010146
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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