A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468072



Internal ID15528137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210130974..210164851hg38UCSC Ensembl
Innerchr1:210304319..210338196hg19UCSC Ensembl
Innerchr1:208370942..208404819hg18UCSC Ensembl
Innerchr1:206692714..206726591hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3833878
hg1933878
hg1833878
hg1733878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543205
Samples1780862001_A
Known GenesSYT14
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)nsv468072
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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