A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460884



Internal ID15174263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25778482..25891593hg38UCSC Ensembl
Innerchr1:26104973..26218084hg19UCSC Ensembl
Innerchr1:25977560..26090671hg18UCSC Ensembl
Innerchr1:25789119..25902226hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38113112
hg19113112
hg18113112
hg17113108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537367
SamplesHGDP01023
Known GenesAUNIP, LOC646471, MAN1C1, MTFR1L, PAQR7, SEPN1, STMN1
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)nsv460884
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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