A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1921014



Internal ID17524170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21467855..21471047hg38UCSC Ensembl
Innerchr12:21620789..21623981hg19UCSC Ensembl
Innerchr12:21512056..21515248hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg383193
hg193193
hg183193
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv975459
Supporting Variants
SamplesHGDP01284
Known GenesPYROXD1, RECQL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1921014
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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