A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548345



Internal ID15989068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180176843..180299341hg38UCSC Ensembl
Innerchr1:180145978..180268476hg19UCSC Ensembl
Innerchr1:178412601..178535099hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38122499
hg19122499
hg18122499
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173928
SamplesNINDS_23
Known GenesACBD6, FLJ23867, LHX4, LOC100527964, QSOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548345
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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