A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200980



Internal ID20768020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160388767..162811116hg38UCSC Ensembl
chr1:160358557..162780906hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg382422350
hg192422350
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332269
Supporting Variants
Samples
Known GenesADAMTS4, APOA2, ARHGAP30, ATF6, B4GALT3, C1orf111, C1orf192, C1orf226, CD244, CD48, CD84, DDR2, DEDD, DUSP12, F11R, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRLA, FCRLB, HSD17B7, HSPA6, HSPA7, ITLN1, ITLN2, KLHDC9, LY9, MIR4654, MIR5187, MIR556, MPZ, NDUFS2, NIT1, NOS1AP, NR1I3, OLFML2B, PCP4L1, PFDN2, PPOX, PVRL4, RPL31P11, SDHC, SH2D1B, SLAMF1, SLAMF6, SLAMF7, TOMM40L, TSTD1, UAP1, UFC1, UHMK1, USF1, USP21, VANGL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200980
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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