A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537594



Internal ID15157043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2904558..3233253hg38UCSC Ensembl
Innerchr4:2906285..3234980hg19UCSC Ensembl
Innerchr4:2876083..3204778hg18UCSC Ensembl
Innerchr4:2943293..3271949hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38328696
hg19328696
hg18328696
hg17328657
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461163
Supporting Variants
Samples1780862404_A
Known GenesADD1, GRK4, HTT, HTT-AS, MFSD10, NOP14, NOP14-AS1
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)nssv537594
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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