A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457720



Internal ID15171099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:30625268..31022670hg38UCSC Ensembl
Innerchr17:28952286..29349688hg19UCSC Ensembl
Innerchr17:25976412..26373814hg18UCSC Ensembl
Innerchr17:25976412..26373814hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38397403
hg19397403
hg18397403
hg17397403
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534851
Samples1782681208_A
Known GenesADAP2, ATAD5, CRLF3, DPRXP4, LRRC37BP1, RNF135, SH3GL1P2, SUZ12P1, TEFM
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)nsv457720
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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