A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178682



Internal ID20745722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6013501..7083700hg38UCSC Ensembl
chr12:6122667..7189876hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381070200
hg191067210
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6472196
Supporting Variants
Samples
Known GenesACRBP, ATN1, C12orf57, C1R, C1S, CD27, CD27-AS1, CD4, CD9, CDCA3, CHD4, COPS7A, DSTNP2, EMG1, ENO2, GAPDH, GNB3, GPR162, IFFO1, ING4, LAG3, LEPREL2, LPAR5, LPCAT3, LRRC23, LTBR, MIR141, MIR200C, MLF2, MRPL51, NCAPD2, NOP2, PHB2, PIANP, PLEKHG6, PTMS, PTPN6, RPL13P5, SCARNA10, SCARNA11, SCARNA12, SCNN1A, SPSB2, TAPBPL, TNFRSF1A, TPI1, USP5, VAMP1, VWF, ZNF384
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178682
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00059


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