A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455661



Internal ID15169040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1217251..1275912hg38UCSC Ensembl
Innerchr1:1152631..1211292hg19UCSC Ensembl
Innerchr1:1142494..1201155hg18UCSC Ensembl
Innerchr1:1192554..1251215hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3858662
hg1958662
hg1858662
hg1758662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533179
Samples1782681247_A
Known GenesB3GALT6, FAM132A, SDF4, UBE2J2
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)nsv455661
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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