A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537595



Internal ID15502167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3147289..3214108hg38UCSC Ensembl
Innerchr4:3149016..3215835hg19UCSC Ensembl
Innerchr4:3118814..3185633hg18UCSC Ensembl
Innerchr4:3186019..3252838hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3866820
hg1966820
hg1866820
hg1766820
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461164
Supporting Variants
Samples1780854205_A
Known GenesHTT
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)nssv537595
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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