A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv898641



Internal ID6305652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6943370..7067336hg19UCSC Ensembl
Outerchr12:6941021..7085171hg19UCSC Ensembl
Innerchr12:6813631..6937597hg18UCSC Ensembl
Outerchr12:6811282..6955432hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1530754
SamplesMS10311
Known GenesATN1, C12orf57, CDCA3, DSTNP2, EMG1, ENO2, GNB3, LEPREL2, LRRC23, MIR141, MIR200C, PHB2, PTPN6, RPL13P5, SCARNA12, SPSB2, TPI1, USP5
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv898641
Frequency
Sample Size6533
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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