A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv88n27



Internal ID20132346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46224041..46332377hg38UCSC Ensembl
chr10:47595277..47703613hg19UCSC Ensembl
chr10:47065283..47173619hg18UCSC Ensembl
chr10:47065283..47173619hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38108337
hg19108337
hg18108337
hg17108337
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467104, nsv467186, nsv467182, nsv467102, nsv467184, nsv467080, nsv467097, nsv467073, nsv467103, nsv467098, nsv467180, nsv467101, nsv467079, nsv467090, nsv467074, nsv467095, nsv467100, nsv467091, nsv467093, nsv467081, nsv467096, nsv467099, nsv467092
SamplesNINDS_272, NINDS_38, NINDS_55, NINDS_84, NINDS_94, NINDS_21, NINDS_56, NINDS_124, HGDP01260, 1780862564_A, NINDS_152, NINDS_237, NINDS_83, NINDS_230, NINDS_221, HGDP01019, NINDS_99, NINDS_62, NINDS_249, HGDP01018, NINDS_73, NINDS_120, NINDS_231
Known GenesANTXRL, ANTXRLP1
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)dgv88n27
Frequency
Sample Size1557
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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