A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541841



Internal ID15165627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180176843..180299341hg38UCSC Ensembl
Innerchr1:180145978..180268476hg19UCSC Ensembl
Innerchr1:178412601..178535099hg18UCSC Ensembl
Innerchr1:176877635..177000133hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38122499
hg19122499
hg18122499
hg17122499
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466239
Supporting Variants
SamplesNINDS_23
Known GenesACBD6, FLJ23867, LHX4, LOC100527964, QSOX1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv541841
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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